Reactome | F9(227-461) G363E [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9670828] Shamovsky, Veronica, 2019-12-17
crossReference	[DatabaseIdentifier:12020816] Mondo:0010604
dbId	9670894
disease	[Disease:9670882] hemophilia B
displayName	F9(227-461) G363E [plasma membrane]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9670864] glycine 363 replaced with L-glutamic acid
inDisease	true
literatureReference	[LiteratureReference:9670918] Expression and Characterization of Gly-317 Variants of Factor IX Causing Variable Bleeding in Hemophilia B Patients [LiteratureReference:9670887] Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations
maxDepth	1
memberOf	[CandidateSet:R-HSA-9670837] F9(227-461) variant [plasma membrane] - Homo sapiens
name	F9(227-461) G363E factor IXa heavy chain G363E
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9670894
startCoordinate	227

(hasMember)

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